Clinical Signs and Symptoms
ORPHA:261295 20p12.3 microdeletion syndrome
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Global developmental delay HP:0001263
- Hypertelorism HP:0000316
Very frequent
- Downslanted palpebral fissures HP:0000494
- Epicanthus HP:0000286
- Hypoplasia of the maxilla HP:0000327
- Macrocephaly HP:0000256
- Malar flattening HP:0000272
- Narrow mouth HP:0000160
- Short stature HP:0004322
- Wolff-Parkinson-White syndrome HP:0001716
Frequent
- Atrial septal defect HP:0001631
- Broad hallux phalanx HP:0010059
- Broad thumb HP:0011304
- Depressed nasal bridge HP:0005280
- Full cheeks HP:0000293
- Long philtrum HP:0000343
- Microtia HP:0008551
- Muscular hypotonia HP:0001252
- Pectus carinatum HP:0000768
- Seizures HP:0001250
- Thickened helices HP:0000391
- Ventriculomegaly HP:0002119
- Wide nasal bridge HP:0000431
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.